Thanatophoric Dysplasia – A Rare Case Report

Thanatophoric Dysplasia – A Rare Case Report

Authors

  • Reena Sharma
  • Poojan Dogra
  • Anil Kumar
  • Kapil Malhotra
  • Sushruti Kaushal
  • Tanu Priya

Keywords:

Thanatophoric dysplasia, dwarfism, ultrasound, MTP

Abstract

Thanatophoric dysplasia (TD) is one of the rare lethal osteochondrodysplasia. Skeletal dysplasia constitute heterogenous group of bone disorders resulting in abnormal shape and size of skeleton. The reported incidence is about 1 in 60,000 births. Here we are reporting the case of PGR with 18 weeks of gestation USG showing the fetus with short stubby long bones with widened metaphysis, large skull and frontal bossing. Ultrasonographic diagnosis was suggestive of thanatophoric dysplasia. Medical termination of pregnancy was done at 18 weeks of gestation after informed consent from affected couple.

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Published

2017-02-28

Issue

Section

Case Report